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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
COQ4 - Coenzyme Q4
Alias:
CGI-92
COQ10D7
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码辅酶Q生物合成途径的一个成分。辅酶Q是电子传递链的必需成分,在复合物I或II和线粒体传输链的复合物III之间传递电子。这个蛋白似乎在稳定包含大部分辅酶Q生物合成酶的复合物的结构中发挥作用。这个基因的突变与线粒体疾病有关,这些疾病与辅酶Q缺乏有关。可变剪接导致多个转录变异体。[由RefSeq,2015年4月提供]
Related ID:
NCBI:51117
ENSEMBL:ENSG00000167113
HGNC:19693
UNIPROT:Q9Y3A0
OMIM:612898
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51117
6
7
11234 bp
29.66
246
4
2
8
COQ4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
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CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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